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Article

Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration.

Human molecular genetics - 1 Feb 2024

Kwong Alan, Zawistowski Matthew, Fritsche Lars G, Zhan Xiaowei, Bragg-Gresham Jennifer, Branham Kari E, Advani Jayshree, Othman Mohammad, Ratnapriya Rinki, Teslovich Tanya M, Stambolian Dwight, Chew Emily Y, Abecasis Gonçalo R, Swaroop Anand

Abstract excerpt

Genome-wide association studies have contributed extensively to the discovery of disease-associated common variants. However, the genetic contribution to complex traits is still largely difficult to interpret. We report a genome-wide association study of 2394 cases and 2393 controls for age-related macular degeneration (AMD) via whole-genome sequencing, with 46.9 million genetic variants. Our study reveals...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37934784
DOI: 10.1093/hmg/ddad189
PMCID: PMC10840384

Genes

CFH
C2
C3
CFI
NRTN
ORMDL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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